A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737329



Internal ID10320965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:57255376..57255799hg38UCSC Ensembl
Outerchr10:59015136..59015559hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927675, essv6931512, essv6831019, essv6787451, essv6940005, essv6862016, essv6684829, essv6908557, essv6705939, essv6896465, essv6672668, essv6736009, essv6887773, essv6863242, essv6775430, essv6728035, essv6965288, essv6806152, essv6716478, essv6882097, essv6890998, essv6866761, essv6819338, essv6856726, essv6695224, essv6803268, essv6731806, essv6944574, essv6677527, essv6879279, essv6783247, essv6827391, essv6681303, essv6834625, essv6768269, essv6685231, essv6712737, essv6970468, essv6850702, essv6809150
SamplesSSM027, SSM075, SSM046, SSM011, SSM064, SSM087, SSM097, SSM073, SSM093, SSM074, SSM042, SSM088, SSM023, SSM028, SSM047, SSM069, SSM096, SSM089, SSM019, SSM094, SSM032, SSM031, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM082, SSM020, SSM007, SSM078, SSM005, SSM080, SSM037, SSM022, SSM034, SSM043, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2737329
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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